C35R (p.Cys35Arg) variant of DCX (O43602)
C35R (p.Cys35Arg) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes published literature and structural context.
C35R (p.Cys35Arg) variant details
- p.Cys35Arg
- rs945410935
- ClinGen CA414247110
- ClinVar RCV002300968
- ClinVar RCV003097878
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- AlphaMissense 0.95
- MetaLR 0.12
- MetaSVM -1.03
- SIFT 0.01
- EVE 0.29
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)